Canonical Allele Identifier: CA360482999

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751755A>T (hg19) ; chr5:g.96416051A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416051A>T , CM000667.2:g.96416051A>T	GRCh38
NC_000005.9:g.95751755A>T , CM000667.1:g.95751755A>T	GRCh37
NC_000005.8:g.95777511A>T	NCBI36
NG_021161.1:g.22231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.691T>A MANE Select	ENSP00000308024.2:p.Tyr231Asn
ENST00000311106.7:c.691T>A	ENSP00000308024.2:p.Tyr231Asn
ENST00000508626.5:c.550T>A	ENSP00000421600.1:p.Tyr184Asn
NM_000439.4:c.691T>A	NP_000430.3:p.Tyr231Asn
NM_001177875.1:c.550T>A	NP_001171346.1:p.Tyr184Asn
NR_130776.1:n.354+36399A>T
NM_000439.5:c.691T>A MANE Select	NP_000430.3:p.Tyr231Asn
NM_001177875.2:c.550T>A	NP_001171346.1:p.Tyr184Asn